G125S (p.Gly125Ser) variant of MMADHC (Q9H3L0)
G125S (p.Gly125Ser) in MMADHC (Q9H3L0) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G125S (p.Gly125Ser) variant details
- p.Gly125Ser
- ExAC rs760971849
- TOPMed rs760971849
- gnomAD rs760971849
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.35
- CADD 16.90
- PolyPhen-2 0.05
- SIFT 0.23
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available